Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Author:

van Kuilenburg André B.P.1,Tarailo-Graovac Maja1,Richmond Phillip A.1,Drögemöller Britt I.1,Pouladi Mahmoud A.1,Leen René1,Brand-Arzamendi Koroboshka1,Dobritzsch Doreen1,Dolzhenko Egor1,Eberle Michael A.1,Hayward Bruce1,Jones Meaghan J.1,Karbassi Farhad1,Kobor Michael S.1,Koster Janet1,Kumari Daman1,Li Meng1,MacIsaac Julia1,McDonald Cassandra1,Meijer Judith1,Nguyen Charlotte1,Rajan-Babu Indhu-Shree1,Scherer Stephen W.1,Sim Bernice1,Trost Brett1,Tseng Laura A.1,Turkenburg Marjolein1,van Vugt Joke J.F.A.1,Veldink Jan H.1,Walia Jagdeep S.1,Wang Youdong1,van Weeghel Michel1,Wright Galen E.B.1,Xu Xiaohong1,Yuen Ryan K.C.1ORCID,Zhang Jinqiu1,Ross Colin J.1,Wasserman Wyeth W.1,Geraghty Michael T.1,Santra Saikat1,Wanders Ronald J.A.1,Wen Xiao-Yan1,Waterham Hans R.1,Usdin Karen1,van Karnebeek Clara D.M.1

Affiliation:

1. From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children’s Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project...

Funder

Alberta Children’s Hospital Research Institute Foundation

BC Children’s Hospital

Fondation Brain Canada

Michael Smith Foundation for Health Research

Stichting Metakids

Natural Sciences and Engineering Research Council of Canada

Genome Canada

National Ataxia Foundation

Canadian Institutes of Health Research

Publisher

Massachusetts Medical Society

Subject

General Medicine

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